Bloom syndrome (Q56897)

Bloom syndrome is a rare autosomal recessive disorder belonging to a group of chromosomal breakage syndromes, and is characterised by marked genetic instability, including a high level of sister chromatid exchanges, associated with a greatly increased predisposition to a wide range of cancers commonly affecting the general population. The constant clinical features of BS are proportionate pre- and postnatal growth retardation and cancer predisposition. Additional clinical features include dolichocephaly, facial sun-sensitive telangiectatic erythema, patchy areas of hyper- and hypopigmentation of the skin and moderate to severe immunodeficiency manifested by recurrent respiratory tract and gastrointestinal infections.